Linked Data
dbSNP Id:
rs1561329086
gnomAD v3:
5-37125443-T-TAAGCAGATAAGATCTGC
gnomAD v4:
5-37125443-T-TAAGCAGATAAGATCTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37125443_37125444insAAGCAGATAAGATCTGC , CM000667.2:g.37125443_37125444insAAGCAGATAAGATCTGC | GRCh38 |
| NC_000005.9:g.37125545_37125546insAAGCAGATAAGATCTGC , CM000667.1:g.37125545_37125546insAAGCAGATAAGATCTGC | GRCh37 |
| NC_000005.8:g.37161302_37161303insAAGCAGATAAGATCTGC | NCBI36 |
| NG_032772.1:g.128985_128986insGCAGATCTTATCTGCTT | |
| NG_032772.2:g.128985_128986insGCAGATCTTATCTGCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1792-35_1792-34insGCAGATCTTATCTGCTT | ||
| ENST00000651892.2:c.8793-35_8793-34insGCAGATCTTATCTGCTT MANE Select | ENSP00000498265.2:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| ENST00000676160.1:n.619_620insGCAGATCTTATCTGCTT | ||
| ENST00000425232.6:c.8631-35_8631-34insGCAGATCTTATCTGCTT | ENSP00000389014.2:n.8631-35_8631-34insGCAGATCTTATCTGCTT | |
| ENST00000508244.5:c.8631-35_8631-34insGCAGATCTTATCTGCTT | ENSP00000421690.1:n.8631-35_8631-34insGCAGATCTTATCTGCTT | |
| ENST00000509849.5:c.5774-4_5774-3insGCAGATCTTATCTGCTT | ENSP00000426337.1:n.5774-4_5774-3insGCAGATCTTATCTGCTT | |
| ENST00000509957.5:n.3974-35_3974-34insGCAGATCTTATCTGCTT | ||
| ENST00000512288.5:n.342-3660_342-3659insGCAGATCTTATCTGCTT | ||
| ENST00000514429.5:c.5829-35_5829-34insGCAGATCTTATCTGCTT | ENSP00000424223.1:n.5829-35_5829-34insGCAGATCTTATCTGCTT | |
| NM_023073.3:c.8631-35_8631-34insGCAGATCTTATCTGCTT | NP_075561.3:n.8631-35_8631-34insGCAGATCTTATCTGCTT | |
| XM_005248345.2:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_005248402.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_005248346.2:c.8790-35_8790-34insGCAGATCTTATCTGCTT | XP_005248403.1:n.8790-35_8790-34insGCAGATCTTATCTGCTT | |
| XM_005248347.2:c.8790-35_8790-34insGCAGATCTTATCTGCTT | XP_005248404.1:n.8790-35_8790-34insGCAGATCTTATCTGCTT | |
| XM_005248349.2:c.8682-35_8682-34insGCAGATCTTATCTGCTT | XP_005248406.1:n.8682-35_8682-34insGCAGATCTTATCTGCTT | |
| XM_005248350.2:c.8664-35_8664-34insGCAGATCTTATCTGCTT | XP_005248407.1:n.8664-35_8664-34insGCAGATCTTATCTGCTT | |
| XM_005248353.3:c.5436-35_5436-34insGCAGATCTTATCTGCTT | XP_005248410.1:n.5436-35_5436-34insGCAGATCTTATCTGCTT | |
| XM_006714489.2:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_006714552.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_006714491.2:c.3366-35_3366-34insGCAGATCTTATCTGCTT | XP_006714554.1:n.3366-35_3366-34insGCAGATCTTATCTGCTT | |
| XM_011514085.1:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512387.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514086.1:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512388.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514087.1:c.8739-35_8739-34insGCAGATCTTATCTGCTT | XP_011512389.1:n.8739-35_8739-34insGCAGATCTTATCTGCTT | |
| XM_011514088.1:c.8685-35_8685-34insGCAGATCTTATCTGCTT | XP_011512390.1:n.8685-35_8685-34insGCAGATCTTATCTGCTT | |
| XM_011514089.1:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512391.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514090.1:c.8475-35_8475-34insGCAGATCTTATCTGCTT | XP_011512392.1:n.8475-35_8475-34insGCAGATCTTATCTGCTT | |
| XM_011514091.1:c.8121-35_8121-34insGCAGATCTTATCTGCTT | XP_011512393.1:n.8121-35_8121-34insGCAGATCTTATCTGCTT | |
| XM_011514092.1:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512394.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514094.1:c.6018-35_6018-34insGCAGATCTTATCTGCTT | XP_011512396.1:n.6018-35_6018-34insGCAGATCTTATCTGCTT | |
| XR_427661.2:n.8968-35_8968-34insGCAGATCTTATCTGCTT | ||
| XR_925644.1:n.8968-35_8968-34insGCAGATCTTATCTGCTT | ||
| XM_005248345.4:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_005248402.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_005248346.4:c.8790-35_8790-34insGCAGATCTTATCTGCTT | XP_005248403.1:n.8790-35_8790-34insGCAGATCTTATCTGCTT | |
| XM_005248347.4:c.8790-35_8790-34insGCAGATCTTATCTGCTT | XP_005248404.1:n.8790-35_8790-34insGCAGATCTTATCTGCTT | |
| XM_005248349.4:c.8682-35_8682-34insGCAGATCTTATCTGCTT | XP_005248406.1:n.8682-35_8682-34insGCAGATCTTATCTGCTT | |
| XM_005248350.4:c.8664-35_8664-34insGCAGATCTTATCTGCTT | XP_005248407.1:n.8664-35_8664-34insGCAGATCTTATCTGCTT | |
| XM_006714491.3:c.3366-35_3366-34insGCAGATCTTATCTGCTT | XP_006714554.1:n.3366-35_3366-34insGCAGATCTTATCTGCTT | |
| XM_011514085.3:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512387.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514086.3:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512388.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514087.2:c.8739-35_8739-34insGCAGATCTTATCTGCTT | XP_011512389.1:n.8739-35_8739-34insGCAGATCTTATCTGCTT | |
| XM_011514088.2:c.8685-35_8685-34insGCAGATCTTATCTGCTT | XP_011512390.1:n.8685-35_8685-34insGCAGATCTTATCTGCTT | |
| XM_011514089.2:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512391.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514090.3:c.8475-35_8475-34insGCAGATCTTATCTGCTT | XP_011512392.1:n.8475-35_8475-34insGCAGATCTTATCTGCTT | |
| XM_011514092.2:c.8793-35_8793-34insGCAGATCTTATCTGCTT | XP_011512394.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| XM_011514094.2:c.6018-35_6018-34insGCAGATCTTATCTGCTT | XP_011512396.1:n.6018-35_6018-34insGCAGATCTTATCTGCTT | |
| XM_017009760.1:c.8604-35_8604-34insGCAGATCTTATCTGCTT | XP_016865249.1:n.8604-35_8604-34insGCAGATCTTATCTGCTT | |
| XM_017009761.2:c.8604-35_8604-34insGCAGATCTTATCTGCTT | XP_016865250.1:n.8604-35_8604-34insGCAGATCTTATCTGCTT | |
| XM_017009763.1:c.7800-35_7800-34insGCAGATCTTATCTGCTT | XP_016865252.1:n.7800-35_7800-34insGCAGATCTTATCTGCTT | |
| XM_017009765.1:c.7605-35_7605-34insGCAGATCTTATCTGCTT | XP_016865254.1:n.7605-35_7605-34insGCAGATCTTATCTGCTT | |
| XM_017009766.1:c.5436-35_5436-34insGCAGATCTTATCTGCTT | XP_016865255.1:n.5436-35_5436-34insGCAGATCTTATCTGCTT | |
| XM_024446183.1:c.8604-35_8604-34insGCAGATCTTATCTGCTT | XP_024301951.1:n.8604-35_8604-34insGCAGATCTTATCTGCTT | |
| XM_024446184.1:c.8475-35_8475-34insGCAGATCTTATCTGCTT | XP_024301952.1:n.8475-35_8475-34insGCAGATCTTATCTGCTT | |
| XM_024446185.1:c.8121-35_8121-34insGCAGATCTTATCTGCTT | XP_024301953.1:n.8121-35_8121-34insGCAGATCTTATCTGCTT | |
| XM_024446186.1:c.7800-35_7800-34insGCAGATCTTATCTGCTT | XP_024301954.1:n.7800-35_7800-34insGCAGATCTTATCTGCTT | |
| XR_001742208.1:n.8962-35_8962-34insGCAGATCTTATCTGCTT | ||
| XR_925644.2:n.9017-35_9017-34insGCAGATCTTATCTGCTT | ||
| NM_001384732.1:c.8793-35_8793-34insGCAGATCTTATCTGCTT MANE Select | NP_001371661.1:n.8793-35_8793-34insGCAGATCTTATCTGCTT | |
| NM_023073.4:c.8631-35_8631-34insGCAGATCTTATCTGCTT | NP_075561.3:n.8631-35_8631-34insGCAGATCTTATCTGCTT |